Results 31 to 40 of about 9,272 (239)

ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine

Journal of Clinical Investigation, 2023
Cystinosis is a lysosomal storage disease that is characterized by the accumulation of dipeptide cystine within the lumen. It is caused by mutations in the cystine exporter, cystinosin.
Varsha Venkatarangan, Weichao Zhang, Xi Yang, J. Thoene, S. Hahn, Ming Li   +5 more
semanticscholar   +1 more source

The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis

International Journal of Molecular Sciences, 2023
Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene, resulting in multi-organ cystine accumulation. Three forms of cystinosis are distinguished: infantile and juvenile nephropathic cystinosis affecting ...
Tjessa Bondue, Anas Kouraich, S. P. Berlingerio, K. Veys, S. Marie, K. Alsaad, E. Al‐Sabban, E. Levtchenko, L. van den Heuvel   +8 more
semanticscholar   +1 more source

Response inhibition and error-monitoring in cystinosis (CTNS gene mutations): Behavioral and electrophysiological evidence of a diverse set of difficulties

bioRxiv, 2023
Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild relative to its effects on other organs, but
A. Francisco, John J. Foxe, Alaina S Berruti, D. J. Horsthuis, S. Molholm   +4 more
semanticscholar   +1 more source

Fibrosing Colonopathy Presenting in a Patient with Cystinosis

JPGN Reports, 2023
Fibrosing colonopathy is a unique pathology characterized by long segment stricture, usually of the ileocecal region. Historically, it is most commonly described in patients with cystic fibrosis (CF).
Dominic Fiore, Vidhur Sohini, Elizabeth Mileti, N. Fiore   +3 more
semanticscholar   +1 more source

Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients

Clinical Kidney Journal, 2022
Cystinosis, a rare autosomal recessive lysosomal storage disorder, results in an abnormal accumulation of the amino acid cystine in multiple organs and tissues of the body.
E. Levtchenko, A. Servais, S. Hulton, G. Ariceta, F. Emma, D. Game, K. Lange, R. Lapatto, Hong Liang, R. Sberro-Soussan, R. Topaloğlu, A. Das, N. Webb, C. Wanner   +13 more
semanticscholar   +1 more source

Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study

Journal of Inherited Metabolic Disease, 2022
Infantile nephropathic cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, progressive kidney disease, and multiple extrarenal complications (ERCs).
K. Veys, Ward Zadora, K. Hohenfellner, D. Bockenhauer, M. Janssen, P. Niaudet, A. Servais, R. Topaloğlu, M. Besouw, R. Novo, D. Haffner, N. Kanzelmeyer, L. Pape, E. Wühl, E. Harms, A. Awan, P. Sikora, G. Ariceta, B. van den Heuvel, E. Levtchenko   +19 more
semanticscholar   +1 more source

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East. [PDF]

, 2019
Background: Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome, is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large number of mutations in CTNS have been identified as causative to date.
Aldahmesh, Anikster, Bastug, Bertholet-Thomas, Cherqui, Chkioua, Cogan, Doneray, Elmonem, Emma, Forestier, Gahl, Gahl, Ghazi, Goldman, Higashi, Jaradat, Kalatzis, Kleta, Levy, McDowell, Sadeghipour, Servais, Shahkarami, Soliman, Thoene, Topaloglu, Topaloglu, Wamelink, Wilmer, Yang, Yeetong, Önenli-Mungan   +32 more
core   +3 more sources

Genistein improves renal disease in a mouse model of nephropathic cystinosis: a comparison study with cysteamine

Human Molecular Genetics, 2022
Cysteamine is currently the only therapy for nephropathic cystinosis. It significantly improves life expectancy and delays progression to end-stage kidney disease; however, it cannot prevent it.
Ester De Leo, A. Taranta, R. Raso, E. Polishchuk, Valentina D’Oria, M. Pezzullo, B. Goffredo, S. Cairoli, F. Bellomo, G. Battafarano, F. Camassei, A. Del Fattore, R. Polishchuk, F. Emma, L. Rega   +14 more
semanticscholar   +1 more source

Infantile Cystinosis [PDF]

, 2009
Infantile cystinosis is a rare disorder which leftuntreated results in end -stage renal disease early in life. Together with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, endstage renal disease used to be the leading cause
Castro, I, Neves, R
core   +1 more source

Serum Chitotriosidase level as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis among the Iraqi children

Iraqi Journal of Pharmaceutical Sciences, 2021
Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation ...
Zainab A. Al-Kinani, Shatha H. Ali
doaj   +1 more source